Seroatlas · Human Serome Atlas

ADSL

Adenylosuccinate lyase

Also known as: PUR8_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P30566
Gene
ADSL
Ensembl
ENSG00000239900
Chromosome
22
Canonical length
484 aa
Protein class
Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location
Cytosol
Quaternary structure
Homotetramer

OverviewNCBI Gene

The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

Canonical amino-acid sequenceUniProt

484 residues, UniProt reviewed canonical sequence.

>P30566|ADSL
     1  MAAGGDHGSP DSYRSPLASR YASPEMCFVF SDRYKFRTWR QLWLWLAEAE QTLGLPITDE
    61  QIQEMKSNLE NIDFKMAAEE EKRLRHDVMA HVHTFGHCCP KAAGIIHLGA TSCYVGDNTD
   121  LIILRNALDL LLPKLARVIS RLADFAKERA SLPTLGFTHF QPAQLTTVGK RCCLWIQDLC
   181  MDLQNLKRVR DDLRFRGVKG TTGTQASFLQ LFEGDDHKVE QLDKMVTEKA GFKRAFIITG
   241  QTYTRKVDIE VLSVLASLGA SVHKICTDIR LLANLKEMEE PFEKQQIGSS AMPYKRNPMR
   301  SERCCSLARH LMTLVMDPLQ TASVQWFERT LDDSANRRIC LAEAFLTADT ILNTLQNISE
   361  GLVVYPKVIE RRIRQELPFM ATENIIMAMV KAGGSRQDCH EKIRVLSQQA ASVVKQEGGD
   421  NDLIERIQVD AYFSPIHSQL DHLLDPSSFT GRASQQVQRF LEEEVYPLLK PYESVMKVKA
   481  ELCL

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against ADSL can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
324 nTPM

Expression across tissuesHPA

Tissue

  • skeletal muscle: 324 nTPM
  • tongue: 227 nTPM
  • thymus: 47 nTPM
  • tonsil: 45 nTPM
  • lymph node: 44 nTPM
  • heart muscle: 43 nTPM

Single-cell type

  • oocytes: 41 nCPM
  • enteric transient amplifying cells: 34 nCPM
  • enteric stem cells: 31 nCPM
  • paneth cells: 31 nCPM
  • choroid plexus epithelial cells: 25 nCPM
  • differentiating spermatogonia: 21 nCPM

Immune cell

  • T-reg: 82 nTPM
  • memory CD4 T-cell: 76 nTPM
  • myeloid DC: 68 nTPM
  • total PBMC: 62 nTPM
  • naive CD4 T-cell: 59 nTPM
  • intermediate monocyte: 55 nTPM

Brain region

  • choroid plexus: 15 nTPM
  • cerebellum: 14 nTPM
  • midbrain: 13 nTPM
  • cerebral cortex: 12 nTPM
  • pons: 11 nTPM
  • hippocampal formation: 11 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about ADSL.

Disease | AllUniProt

Conditions ADSL is implicated in, by any mechanism.

Disease | GeneticClinVar

72 pathogenic / likely-pathogenic of 911 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Adenylosuccinate lyase deficiency
  • ADSL-related disorder
  • Inborn genetic diseases
  • Progressive neurologic deterioration
  • Inability to walk

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.07
gnomAD pLI
0
gnomAD missense Z
0.8
DepMap mean gene effect
-0.89
DepMap dependency class
common

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

  • identical protein binding
  • (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido) succinate lyase (fumarate-forming) activity
  • N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads ADSL as an antibody target. Whether an autoantibody or antibody against ADSL could matter depends on whether native ADSL is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

ADSL is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label ADSL as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/ADSL. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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